LIMB GIRDLE MUSCULAR DYSTROPHIES

Dysferlinopathy presents as limb-girdle muscular dystrophy or Miyoshi distal myopathy. Beginning to deteriorate from late teen to early adulthood, the patients lose mobility in a decade or so. We had found a third of our dysferlinopathy patients harbor a homozygous nonsense mutation, while another third of them have a heterozygous nonsense mutation in conjunction with another type of pathogenic mutation. Ataluren is an orally administered...